Ichthyosis is a rare heterogeneous cutaneous disorder characterized by hyperkeratinization of the skin. They may be inherited or acquired following malnutrition, malignancy, or autoimmune disorders. Common forms of ichthyosis include lamellar ichthyosis (LI), X-linked ichthyosis, bullous ichthyosiform erythroderma, and ichthyosis vulgaris. LI may be associated with ectropion and eclabion and if poorly managed could result in vision loss. The case of a 7-month-old girl who presented with bilateral keratitis, panophthalmitis, and perforated right cornea is reported in this communication.

Ichthyosis is a heterogeneous group of epidermal disorder characterized using progressive hyperkeratosis resulting in extensive scaling;[1] they are mostly hereditary, but acquired forms have been reported. They are broadly classified into four main groups as follows: lamellar ichthyosis (LI)/nonbullous ichthyosiform erythroderma, X-linked ichthyosis, bullous ichthyosiform erythroderma, and ichthyosis vulgaris.[2],[3]

LI is rare occurring in 1 in 200,000–300,000 live births.[4] It occurs worldwide with equal sex distribution. However, ocular manifestation such as ectropion is a common presentation in 45%–80% of cases,[5] but extreme complications due to exposure keratopathy as witnessed in the index case are a rarity. Therefore, a 7-month-old girl with bilateral corneal perforation is reported.

Case Report

A 7-month-old girl presented with bilateral eye swelling. She was born with a congenital skin defect – LI. She was a product of consanguineous union. She was delivered prematurely at 36 weeks gestation as a collodion baby which exfoliated. Extensive scaly lesions were subsequently noticed a few days later. She had an elder brother who had a similar skin disorder and was followed at the dermatology clinic. She had been on topical emollients; she was delivered with bilateral ectropion [Figure 1]; she had been on topical antibiotic eye drops. However 2 weeks to the presentation, the mother noticed bilateral eye discharge which became progressive and both eyes were swollen. She presented to a cottage hospital where topical antibiotics were presented; however, there was no improvement. She has deranged anthropometry for age (weight z-score); examination revealed a perforated left cornea and swollen right cornea [Figure 2]. There was loss of vision in both eyes. The diagnosis of bilateral keratitis, panophthalmitis with right corneal perforation was made. She had systemic antibiotics and Vitamin A.

LI is an autosomal recessive disorder though autosomal dominant forms of inheritance have been reported.[6] Mutation in the gene that codes for a transglutaminase is responsible for this disorder. In our case, she is a product of consanguineous union which has been documented in about 8% of cases.[7] The presence of similar illness in elder male sibling and the absence of similar disorder among the parents make an autosomal mode of inheritance the most likely explanation.

Children with LI are born covered by an envelope of colloid-like thickened stratum corneum, hence the name “collodion babies.” This thickened shell everts the eyelids resulting in ectropion; similarly, the lips maybe affected resulting in eclabion.[8] Furthermore, overtime cicatration of the facial skin and eyelids worsens the ectropion;[1],[9] it involves both eyelids but more common with the lower eyelids; and it is often bilateral.[1] The patient had upper eyelids involvement similar to that reported by Okoro et al.[10] Significant exposure of the cornea and conjunctiva results in exposure keratitis. Although Cruz et al.[11] had postulated that corneal damage is not directly linked to lower ectropion, our case had upper eyelid ectropion which resulted in a larger area of exposure. Other factors implicated are lack of Bell's phenomenon and eyelash retraction as were also witnessed in the index case. Corneal infections contribute significantly to the incidence of visual loss; this results in keratitis, corneal edema, and perforation.[12] Risk factors for corneal keratitis include trauma, use of contact lenses, and trachoma. This in addition to late hospital presentation contributed significantly to the perforation and blindness witnessed in the index case. Furthermore, a hyperkeratotic state such as LI will result in high requirement of micronutrients such as Vitamin A. Therefore, deficiency state as is often experienced in malnourished children may further heighten the risk of xerophthalmia. Therefore, there is the need for clinicians to anticipate these ocular problems in patients with LI, to mitigate these irreversible complications. Their nutritional status should be closely guided and micronutrient deficiencies replenished.

Conclusion

The ocular complications of LI could be devastating if poorly managed; the risk of eye infection is heightened due to the loss of the epithelial barrier, and documented cases should be managed effectively; otherwise, it may accelerate the risk of perforation.

Consent

Consent was obtained from the parents of the patient for the use of clinical data and pictures in this study.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that names and initials will not be published and due efforts will be made to conceal patient identity, but anonymity cannot be guaranteed.